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resources [2023/01/30 22:51] – cassaresources [2023/01/30 22:51] (current) – cassa
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 [[https://github.com/cassalab/tocayo|Tocayo]] is a pipeline for analyzing sequence variants which have evidence of pathogenicity according to the PS1, PM5, and PVS1 guidelines specified by the ACMG/AMP. Specifically, the pipeline is meant to analyze VUS in ClinVar and other unclassified nsSNVs. [[https://github.com/cassalab/tocayo|Tocayo]] is a pipeline for analyzing sequence variants which have evidence of pathogenicity according to the PS1, PM5, and PVS1 guidelines specified by the ACMG/AMP. Specifically, the pipeline is meant to analyze VUS in ClinVar and other unclassified nsSNVs.
  
-**FUSE: +**FUSE:** 
  
 [[https://github.com/cassalab/fuse|FUSE]] is a pipeline to refine and impute functional assay data. We develop a framework to exploit related measurements within and across experimental assays to jointly estimate variant impact.  [[https://github.com/cassalab/fuse|FUSE]] is a pipeline to refine and impute functional assay data. We develop a framework to exploit related measurements within and across experimental assays to jointly estimate variant impact.